Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31821560A>C , CM000682.2:g.31821560A>C | GRCh38 |
| NC_000020.10:g.30409363A>C , CM000682.1:g.30409363A>C | GRCh37 |
| NC_000020.9:g.29873024A>C | NCBI36 |
| NG_012847.1:g.7186A>C , LRG_392:g.7186A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033118.4:c.595A>C MANE Select | NP_149109.1:p.Ile199Leu |
| ENST00000375985.5:c.595A>C MANE Select | ENSP00000365152.4:p.Ile199Leu |
| NM_033118.3:c.595A>C , LRG_392t1:c.595A>C | NP_149109.1:p.Ile199Leu |
| ENST00000375985.4:c.595A>C | ENSP00000365152.4:p.Ile199Leu |
| ENST00000375994.6:c.595A>C | ENSP00000365162.2:p.Ile199Leu |
| XR_244155.1:n.760A>C |